Table 2 Single nucleotide transitions and deletions causing HHSC (as of September 2009).

SNT

c.-186C > T

14C > G

Cremonesi et al.[35]

2001

1/1

Italy

SNT

c.-182C > T+ c.-178T > G

18C > T + 22T > G

Pavia-2

Cazzola et al.[36]

1997

1/3

Italy

SNT

c.-171C > G

29C > G

Bosio et al.[37]

2004

1/2

Italy

SNT

c.-168G > A

32G > A

Pavia-1

Cazzola et al.[36]

1997

1/7

Italy

Cicilano et al.[38]

1999

1/4

Italy

Volkmann et al.[39]

2000

1/5

Italy

Vanita et al.[40]

2006

1/13

India

Simsek et al.[41]

2003

1/10

Netherlands

Millonig et al.[42]

2009

1/17

Germany

SNT

c.-168G > C

32G > C

Baltimore

Kato and Casella[43]

1999

-

Italy

Campagnoli et al.[44]

2002

1/7

Italy

Craig et al.[45]

2003

1/4

UK

Simsek et al.[41]

2003

1/6

Netherlands

Lachlan et al.[46]

2004

2/6

UK

SNT

c.-168G > T

32G > T

Paris-2

Martin et al.[47]

1998

2/7

France

Craig et al.[45]

2003

1/1

Australia

Hetet et al.[48]

2003

5/-

France

Lachlan et al.[46]

2004

1/1

UK

SNT

c.-167C > A

33C > A

Giansily et al.[49]

2001

-

Italy

Hetet et al.[48]

2003

1/1

France

SNT

c.-167C > T

33C > T

Madrid

Balas et al.[50]

1999

1/6

Spain

Brooks et al.[51]

2002

1/5

USA

Hetet et al.[48]

2003

3/-

France

Ladero et al.[52]

2004

1/7

Spain

Lachlan et al.[46]

2004

1/1

UK

SNT

c.-166T > C

34T > C

Hetet et al.[48]

2003

1/3

France

SNT

c.-164C > A

36C > A

London-2

Mumford et al.[53]

1998

1/8

UK

Hetet et al.[48]

2003

1/1

France

Lachlan et al.[46]

2004

1/1

UK

SNT

c.-164C > G

36C > G

Cremonesi et al.[54]

2003

-

Italy

SNT

c.-163A > T

37A > T

Zaragoza

Garcia Erce et al.[55]

2006

2/10

Spain

SNT

c.-163A > C

37A > C

Cremonesi

Personal communication

Italy

SNT

c.-163A > G

37A > G

Cremonesi et al.[54]

2003

-

Italy

SNT

c.-161C > A

39C > A

Craig et al.[45]

2003

1/2

Italy

SNT

c.-161C > G

39C > G

Garderet et al.[56]

2004

1/3

France

Papanikolaou et al.[57]

2006

3/19

Greece

SNT

c.-161C > T

39C > T

London-1

Mumford et al.[53]

1998

1/2

UK

Arosio et al.[58]

1999

1/1

Italy

Cicilano et al.[38]

1999

1/8

Italy

Hernandez Martin et al.[59]

2008

1/1

Spain

Hetet et al.[48]

2003

3/5

France

Lachlan et al.[46]

2004

1/1

UK

Ferrante et al.[60]

2005

2/

Belgium

SNT

c.-160A > G

40A > G

146A > G

Paris-1 Montpellier-1

Beaumont et al.[33]

1996

1/5

France

Aguilar-Martinez et al.[61]

1996

1/1

France

Arnold et al.[62]

1997

1/6

UK

Barton et al.[63]

1998

1/1

European

Cicilano et al.[38]

1999

1/8

Italy

Perez de Nanclares et al.[64]

2001

1/-

Spain (Basque)

Craig et al.[45]

2003

1/11

Australia

Hetet et al.[48]

2003

4/-

France

Lachlan et al.[46]

2004

1/1

UK

Del Castillo Rueda et al.[65]

2007

1/3

Spain

Hughes and Vosylius[66]

2006

1/1

UK

Mumford et al.[53]

2000

1/6

UK

Ferrante et al.[60]

2005

2/

Belgium

Mohn et al.[67]

2005

1/1

Italy

40A > G + 41G > C

Cremonesi et al.[35]

2001

Italy

SNT

c.-159G > C

41G > C

147G > C

Verona-1

Girelli et al.[34]

1995

1/3

Italy

SNT

c.-157G > A

43G > A

Phillips et al.[68]

2005

1/14

USA

SNT

c.-153G > A

47G > A

Hetet et al.[48]

2003

1/3

France

SNT

c.-150C > A

50C > A

Gonzalez-Huerta et al.[69]

2008

1/11

Mexico

SNT

c.-149G > C

51G > C

Camaschella et al.[70]

2000

1/2

Italy

SNT

c.-144A > T

56A > T

Cremonesi

Personal communication

France

Deletion

c.-220_-196del25

Burdon et al.[71]

2007

1/6

Australia

Deletion

c.-190-162del29

10_38del29

Verona-2

Girelli et al.[72]

1997

1/6

Italy

Deletion

c.-178-173del30

22_27del6

Cazzola et al.[73]

2002

1/-

Italy

Deletion

c.-162-161delAC

38_39delAC

Giansily et al.[49]

2001

-

Hetet et al.[48]

2003

1/1

Canada

Deletion

c.-158-143del16

42_57del16

Feys et al.[74]

2001

1/3

France

Hetet et al.[48]

2003

Same family